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Test Catalog

Test ID: CDGN    
Congenital Disorders of N-Glycosylation, Serum

Useful For Suggests clinical disorders or settings where the test may be helpful

Screening for N-linked congenital disorders of glycosylation

 

Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing includes matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) analysis of N-linked oligosaccharides along with transferrin and apolipoprotein CIII isoform analysis (see CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum).

Highlights

Congenital disorders of glycosylation (CDG) comprise a large group of inborn errors of metabolism affecting predominantly N- and O-glycosylation of proteins.

 

N-linked CDG commonly present as clinical syndromes with multisystemic involvement and a broad clinical spectrum.

 

In addition to transferrin and apolipoprotein CIII isoform analysis, this test also detects and analyzes N-linked oligosaccharides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI TOF MS) for a more comprehensive evaluation of CDG.

Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CDGCDG, SYesYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, carbohydrate deficient transferrin for congenital disorders will always be performed at an additional charge.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI TOF MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

CDGN, S

Aliases Lists additional common names for a test, as an aid in searching

Carbohydrate Deficient Glycoprotein Syndrome (CDGS)
CDG (Congenital Disorders of Glycosylation)
N-linked Glycosylation Disorders
N-glycan
N-linked glycosylation
N-linked oligosaccharides
N glycosylation
Glycoprotein